S71C (p.Ser71Cys) variant of ATL1 (Atlastin-1)
S71C (p.Ser71Cys) in ATL1 (Atlastin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
S71C (p.Ser71Cys) variant details
- p.Ser71Cys
- gnomAD 14-50588008-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- REVEL 0.68
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available